Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001199282.2:c.2032C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614700.2.2 | Saudi Arabia | Male | Yes | Unaffected father of 614700.2.1 | ||
| 614700.2.3 | Saudi Arabia | Male | Yes | Unaffected mother of 614700.2.1 |